Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa

被引：13

作者：

Marusic, Tatiana ^{[1
]}

Tansek, Mojca Zerjav ^{[1
,3
]}

Campa, Andreja Sirca ^{[1
]}

Mezek, Ajda ^{[1
]}

Berden, Pavel ^{[2
]}

Battelino, Tadej ^{[1
,3
]}

Groselj, Urh ^{[1
,3
]}

机构：

[1] Univ Med Ctr Ljubljana, Univ Childrens Hosp, Bohoriceva Ulica 20, Ljubljana 1000, Slovenia

[2] Univ Med Ctr Ljubljana, Clin Inst Radiol, Zaloska Cesta 7, Ljubljana 1000, Slovenia

[3] Univ Ljubljana, Fac Med, Vrazov Trg 2, Ljubljana 1000, Slovenia

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2020年 / 24卷

关键词：

Glycogen storage disease; GSD type IIIa; Cardiomyopathy; Ketogenic diet; Case report; MANAGEMENT; DIAGNOSIS;

D O I：

10.1016/j.ymgmr.2020.100628

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Now 15-year-old girl with glycogen storage disease (GSD) type IIIa (OMIM 232400) developed severe left ventricular obstructive hypertrophy and hepatomegaly while treated with frequent cornstarch meals. Subsequently, she was introduced the ketogenic diet; continuous ketosis has been maintained for over the last 4 years. After the introduction of ketogenic diet, a normalization of the cardiomyopathy and improvement of hepatopathy was achieved, with enhanced overall quality of life.

引用

页数：4

共 50 条

[31] The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa [J].

Qu, Qianqian ;

Qian, Qi ;

Shi, Jiejing ;

Liu, Haiyan ;

Zhang, Yan ;

Cui, Wenhao ;

Chen, Ping ;

Lv, Haidong .

FRONTIERS IN NEUROLOGY, 2020, 11

[32] Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report [J].

Takahashi, Tamayo ;

Oue, Kana ;

Imado, Eiji ;

Doi, Mitsuru ;

Shimizu, Yoshitaka ;

Yoshida, Mitsuhiro .

JA CLINICAL REPORTS, 2023, 9 (01)

[33] The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III [J].

Wang, Jing ;

Yu, Yuping ;

Cai, Chunquan ;

Zhi, Xiufang ;

Zhang, Ying ;

Zhao, Yu ;

Shu, Jianbo .

BMC PEDIATRICS, 2022, 22 (01)

[34] Clinical and genetic variability of glycogen storage disease type IIIa:: Seven novel AGL gene mutations in the Mediterranean area [J].

Lucchiari, S ;

Fogh, I ;

Prelle, A ;

Parini, R ;

Bresolin, N ;

Melis, D ;

Fiori, L ;

Scarlato, G ;

Comi, GP .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 109 (03) :183-190

[35] A CASE OF GLYCOGEN-STORAGE-DISEASE TYPE-III (GLYCOGEN DEBRANCHING ENZYME DEFICIENCY) WITH LIVER-CIRRHOSIS AND HYPERTROPHIC CARDIOMYOPATHY [J].

KOBAYASHI, A ;

NISHINOMIYA, F ;

FUKAMACHI, Y ;

OHTAKA, M ;

YAMAMOTO, J ;

TAKAGI, K ;

TANAKA, S ;

TAKIZAWA, S ;

IMADACHI, H ;

FUKASE, M ;

SHIMIZU, Y ;

HAYASAKA, KO .

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1995, 176 (03) :181-185

[36] Familial hypertrophic cardiomyopathy with Wolf-Parkinson-White syndrome revealing type II glycogen storage disease [J].

Tabarki, B ;

Mahdhaoui, A ;

Yacoub, M ;

Selmi, H ;

Mahdhaoui, N ;

Bouraoui, H ;

Ernez, S ;

Jridi, G ;

Ammar, H ;

Essoussi, AS .

ARCHIVES DE PEDIATRIE, 2002, 9 (07) :697-700

[37] 3 CONSECUTIVE PREGNANCIES IN A PATIENT WITH GLYCOGEN-STORAGE-DISEASE TYPE-IA (VONGIERKES-DISEASE) [J].

RYAN, IP ;

HAVEL, RJ ;

LAROS, RK .

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1994, 170 (06) :1687-1691

[38] A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature [J].

Ai, Jiaoyu ;

He, Wenhua ;

Huang, Xin ;

Wu, Yao ;

Lei, Yupeng ;

Yu, Chen ;

Gorgulu, Kivanc ;

Diakopoulos, Kalliope N. ;

Lu, Nonghua ;

Zhu, Yin .

MEDICINE, 2020, 99 (42) :E22644

[39] An adult male patient with multiple adenomas and a hepatocellular carcinoma: Mild Glycogen Storage Disease type la [J].

Cassiman, David ;

Libbrecht, Louis ;

Verslype, Chris ;

Meersseman, Wouter ;

Troisi, Roberto ;

Zucman-Rossi, Jessica ;

Van Vlierberghe, Hans .

JOURNAL OF HEPATOLOGY, 2010, 53 (01) :213-217

[40] Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report [J].

Tamayo Takahashi ;

Kana Oue ;

Eiji Imado ;

Mitsuru Doi ;

Yoshitaka Shimizu ;

Mitsuhiro Yoshida .

JA Clinical Reports, 9

← 1 2 3 4 5 →